Maple Syrup Urine Disorder=> A heredity enzyme defect in metabolism of branched chain amino acids.
Symptoms=>
-mental and physical retardation
-severe ketoacidosis
-feeding difficulties
-characteristic maple syrup odor in the urine and on the body.
How is this disease inherited=>MSUD is inherited in an autosomal recessive pattern. For a child to get the disease, he or she must inherit a defective copy of the gene from each parent. If both parents carry the MSUD gene, each of their children has a 25 percent chance of getting the disorder, and a 50 percent chance of being a carrier.
How is This disease treated=> Treatment involved dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the amino acids leucine, isoleucine, and valine. As the person grows to adulthood, he or she must always watch their diet, avoiding high protein foods such as meat, eggs, and nuts. If levels of the three amino acids still get too high, patients can be treated with an intravenous (given through a vein) solution that helps the body use up excess leucine, isoleucine, and valine for protein synthesis. Gene therapy is also a potential future treatment for patients with Maple Syrup Urine Disease. This would involve replacing the mutated gene with a good copy, allowing the patient's cells to generate a functional BCKD protein complex and break down the excess amino acids.
MAPLE SYRUP URINE DISORDER
By Brittany Cornelius(:Maple Syrup Urine Disorder=> A heredity enzyme defect in metabolism of branched chain amino acids.
Symptoms=>
-mental and physical retardation
-severe ketoacidosis
-feeding difficulties
-characteristic maple syrup odor in the urine and on the body.
How is this disease inherited=>MSUD is inherited in an autosomal recessive pattern. For a child to get the disease, he or she must inherit a defective copy of the gene from each parent. If both parents carry the MSUD gene, each of their children has a 25 percent chance of getting the disorder, and a 50 percent chance of being a carrier.
How is This disease treated=>
Treatment involved dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the amino acids leucine, isoleucine, and valine. As the person grows to adulthood, he or she must always watch their diet, avoiding high protein foods such as meat, eggs, and nuts.
If levels of the three amino acids still get too high, patients can be treated with an intravenous (given through a vein) solution that helps the body use up excess leucine, isoleucine, and valine for protein synthesis.
Gene therapy is also a potential future treatment for patients with Maple Syrup Urine Disease. This would involve replacing the mutated gene with a good copy, allowing the patient's cells to generate a functional BCKD protein complex and break down the excess amino acids.
http://medical-dictionary.thefreedictionary.com/maple+syrup+urine+disease
http://learn.genetics.utah.edu/content/disorders/whataregd/msud/